Literature DB >> 25371195

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

Maurizio Rondinelli1, Francesca Novara, Valeria Calcaterra, Orsetta Zuffardi, Stefano Genovese.   

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Year:  2014        PMID： 25371195     DOI： 10.1007/s00592-014-0648-1

Source DB:  PubMed          Journal:  Acta Diabetol        ISSN： 0940-5429            Impact factor:   4.280


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  16 in total

Review 1.  Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders.

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2.  Disrupting CISD2 function in cancer cells primarily impacts mitochondrial labile iron levels and triggers TXNIP expression.

Authors:  Ola Karmi; Yang-Sung Sohn; Sara I Zandalinas; Linda Rowland; Skylar D King; Rachel Nechushtai; Ron Mittler
Journal:  Free Radic Biol Med       Date:  2021-09-20       Impact factor: 7.376

Review 3.  Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.

Authors:  Maurizio Delvecchio; Matteo Iacoviello; Antonino Pantaleo; Nicoletta Resta
Journal:  Int J Environ Res Public Health       Date:  2021-04-30       Impact factor: 3.390

4.  A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.

Authors:  Monica Cattaneo; Lucia La Sala; Maurizio Rondinelli; Edoardo Errichiello; Orsetta Zuffardi; Annibale Alessandro Puca; Stefano Genovese; Antonio Ceriello
Journal:  BMC Med Genet       Date:  2017-12-13       Impact factor: 2.103

5.  A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Authors:  Cécile Rouzier; David Moore; Cécile Delorme; Sandra Lacas-Gervais; Samira Ait-El-Mkadem; Konstantina Fragaki; Florence Burté; Valérie Serre; Sylvie Bannwarth; Annabelle Chaussenot; Martin Catala; Patrick Yu-Wai-Man; Véronique Paquis-Flucklinger
Journal:  Hum Mol Genet       Date:  2017-05-01       Impact factor: 6.150

Review 6.  The unique fold and lability of the [2Fe-2S] clusters of NEET proteins mediate their key functions in health and disease.

Authors:  Ola Karmi; Henri-Baptiste Marjault; Luca Pesce; Paolo Carloni; Jose' N Onuchic; Patricia A Jennings; Ron Mittler; Rachel Nechushtai
Journal:  J Biol Inorg Chem       Date:  2018-02-12       Impact factor: 3.358

7.  Clinical utility gene card for: Wolfram syndrome.

Authors:  Mariya Moosajee; Patrick Yu-Wai-Man; Cécile Rouzier; Maria Bitner-Glindzicz; Richard Bowman
Journal:  Eur J Hum Genet       Date:  2016-05-25       Impact factor: 4.246

8.  Behavioral characterization of a novel Cisd2 mutant mouse.

Authors:  Christiann H Gaines; Angela E Snyder; Robin B Ervin; Joseph Farrington; Kenneth Walsh; Sarah A Schoenrock; Lisa M Tarantino
Journal:  Behav Brain Res       Date:  2021-02-18       Impact factor: 3.332

9.  Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome.

Authors:  Agnieszka Zmyslowska; Wojciech Fendler; Arleta Waszczykowska; Anna Niwald; Maciej Borowiec; Piotr Jurowski; Wojciech Mlynarski
Journal:  Acta Diabetol       Date:  2017-08-30       Impact factor: 4.280

10.  Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Authors:  Dewi Astuti; Ataf Sabir; Piers Fulton; Malgorzata Zatyka; Denise Williams; Carol Hardy; Gabriella Milan; Francesca Favaretto; Patrick Yu-Wai-Man; Julia Rohayem; Miguel López de Heredia; Tamara Hershey; Lisbeth Tranebjaerg; Jian-Hua Chen; Annabel Chaussenot; Virginia Nunes; Bess Marshall; Susan McAfferty; Vallo Tillmann; Pietro Maffei; Veronique Paquis-Flucklinger; Tarekign Geberhiwot; Wojciech Mlynarski; Kay Parkinson; Virginie Picard; Gema Esteban Bueno; Renuka Dias; Amy Arnold; Caitlin Richens; Richard Paisey; Fumihiko Urano; Robert Semple; Richard Sinnott; Timothy G Barrett
Journal:  Hum Mutat       Date:  2017-06-01       Impact factor: 4.878
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